Canonical Allele Identifier: CA408118073

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893280A>G (hg19) ; chr20:g.3912633A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912633A>G , CM000682.2:g.3912633A>G	GRCh38
NC_000020.10:g.3893280A>G , CM000682.1:g.3893280A>G	GRCh37
NC_000020.9:g.3841280A>G	NCBI36
NG_008131.3:g.28795A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1081A>G MANE Select	ENSP00000477429.2:p.Ser361Gly
ENST00000316562.9:c.1411A>G	ENSP00000313377.4:p.Ser471Gly
ENST00000336066.8:c.*422A>G	ENSP00000477229.2:n.*422A>G
ENST00000610179.6:c.1081A>G	ENSP00000477429.2:p.Ser361Gly
ENST00000643504.2:c.*711A>G	ENSP00000495157.2:n.*711A>G
ENST00000646394.1:c.908A>G
ENST00000316562.8:c.1411A>G	ENSP00000313377.4:p.Ser471Gly
ENST00000336066.7:c.*422A>G	ENSP00000477229.1:n.*422A>G
ENST00000464452.1:n.646A>G
ENST00000495692.5:c.103A>G	ENSP00000476745.1:p.Ser35Gly
ENST00000497424.5:c.538A>G	ENSP00000417609.1:p.Ser180Gly
ENST00000610179.5:c.1042A>G	ENSP00000477429.1:p.Ser348Gly
ENST00000621507.1:c.538A>G	ENSP00000481523.1:p.Ser180Gly
NM_024960.4:c.538A>G	NP_079236.3:p.Ser180Gly
NM_153638.2:c.1411A>G	NP_705902.2:p.Ser471Gly
NM_153640.2:c.538A>G	NP_705904.1:p.Ser180Gly
XM_005260835.2:c.796A>G	XP_005260892.1:p.Ser266Gly
XM_005260836.3:c.538A>G	XP_005260893.3:p.Ser180Gly
XM_006723631.1:c.538A>G	XP_006723694.1:p.Ser180Gly
XM_011529364.1:c.1235+1803A>G	XP_011527666.1:n.1235+1803A>G
NM_001324191.1:c.538A>G	NP_001311120.1:p.Ser180Gly
NM_001324193.1:c.103A>G	NP_001311122.1:p.Ser35Gly
NM_024960.5:c.538A>G	NP_079236.3:p.Ser180Gly
NM_153638.3:c.1411A>G	NP_705902.2:p.Ser471Gly
NM_153640.3:c.538A>G	NP_705904.1:p.Ser180Gly
NR_136715.1:n.1435A>G
XM_005260835.3:c.796A>G	XP_005260892.1:p.Ser266Gly
XM_005260836.4:c.538A>G	XP_005260893.3:p.Ser180Gly
XM_011529364.3:c.1235+1803A>G	XP_011527666.1:n.1235+1803A>G
XM_017028077.2:c.103A>G	XP_016883566.1:p.Ser35Gly
XM_017028078.2:c.103A>G	XP_016883567.1:p.Ser35Gly
XM_017028079.2:c.103A>G	XP_016883568.1:p.Ser35Gly
XM_024452002.1:c.103A>G	XP_024307770.1:p.Ser35Gly
XR_002958533.1:n.2199A>G
NM_001324191.2:c.538A>G	NP_001311120.1:p.Ser180Gly
NM_001324193.2:c.103A>G	NP_001311122.1:p.Ser35Gly
NM_024960.6:c.538A>G	NP_079236.3:p.Ser180Gly
NR_136715.2:n.982A>G
NM_001386393.1:c.1081A>G MANE Select	NP_001373322.1:p.Ser361Gly
NM_153638.4:c.1411A>G	NP_705902.2:p.Ser471Gly
NM_153640.4:c.538A>G	NP_705904.1:p.Ser180Gly